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Variant (rsID / SNP)

rs142648132

MTR

rs142648132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTR. Location: chromosome 1, position 236,979,821. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MTRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:236979821
Cytoband
1q43
HGVS
NM_000254.3(MTR):c.742G>A (p.Val248Met)
Allele change
Silent

Associated conditions / phenotypes

Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.